Linked Data
ClinVar Variation Id:
1958798
ClinVar RCV Id:
RCV002696258
dbSNP Id:
rs1464398432
gnomAD v2:
5-95764916-C-T
gnomAD v3:
5-96429212-C-T
gnomAD v4:
5-96429212-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.96429212C>T , CM000667.2:g.96429212C>T | GRCh38 |
| NC_000005.9:g.95764916C>T , CM000667.1:g.95764916C>T | GRCh37 |
| NC_000005.8:g.95790672C>T | NCBI36 |
| NG_021161.1:g.9070G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000311106.8:c.285+1G>A MANE Select | ENSP00000308024.2:n.285+1G>A | |
| ENST00000311106.7:c.285+1G>A | ENSP00000308024.2:n.285+1G>A | |
| ENST00000508626.5:c.144+1G>A | ENSP00000421600.1:n.144+1G>A | |
| ENST00000509190.1:c.285+1G>A | ENSP00000427294.1:n.285+1G>A | |
| NM_000439.4:c.285+1G>A | NP_000430.3:n.285+1G>A | |
| NM_001177875.1:c.144+1G>A | NP_001171346.1:n.144+1G>A | |
| NR_130776.1:n.354+49560C>T | ||
| NM_000439.5:c.285+1G>A MANE Select | NP_000430.3:n.285+1G>A | |
| NM_001177875.2:c.144+1G>A | NP_001171346.1:n.144+1G>A |